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X‐linked congenital adrenal hypoplasia: Report of long clinical follow‐up and description of a new complex variant in the NR0B1 gene

American journal of medical genetics. Part A, 2024-06, Vol.194 (6), p.e63536-n/a

2024

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Delayed-onset adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by a novel mutation in DAX1

Journal of international medical research, 2020-02, Vol.48 (2), p.300060519882151-300060519882151

2020

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Report: central diabetes insipidus and schwannoma in a male with X-linked congenital adrenal hypoplasia

BMC endocrine disorders, 2020-05, Vol.20 (1), p.73-73, Article 73

2020

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Adrenal cortex development and related disorders leading to adrenal insufficiency

Molecular and cellular endocrinology, 2021-05, Vol.527, p.111206-111206, Article 111206

2021

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Response to Letter to the Editor From Janot et al: “Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia”

The journal of clinical endocrinology and metabolism, 2024-08, Vol.109 (9), p.e1812-e1812

2024

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Letter to the Editor From Janot et al: « Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia

The journal of clinical endocrinology and metabolism, 2024-08, Vol.109 (9), p.e1808-e1809

2024

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Nueva Variante Patogénica en el Gen NR0B1 Asociada a Hipoplasia Adrenal Congénita

Andes pediatrica : revista Chilena de pediatría, 2022-08, Vol.93 (4), p.585-590

2022

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DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease

Baillière's best practice & research. Clinical endocrinology & metabolism, 2015-08, Vol.29 (4), p.607-619

2015

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Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia

The journal of clinical endocrinology and metabolism, 2024-02, Vol.109 (3), p.641-648

2024

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Novel non-stop variant of the NR0B1 gene in two siblings with adrenal hypoplasia congenita

Journal of Pediatric Endocrinology and Metabolism, 2022-09, Vol.35 (9), p.1189-1193

2022

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Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center

Pituitary, 2017-10, Vol.20 (5), p.585-593

2017

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IMAGe syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal development

The Journal of pediatrics, 2004-02, Vol.144 (2), p.274-277

2004

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Patient with adrenal insufficiency due to a de novo mutation in the NR0B1 gene

Advances in laboratory medicine, 2023-06, Vol.4 (2), p.195-198

2023

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Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant

Frontiers in pediatrics, 2020-12, Vol.8, p.619041

2020

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Pleomorphism of the HPG axis with NR0B1 gene mutation — a case report of longitudinal follow-up of a proband with central precocious puberty

Journal of Pediatric Endocrinology and Metabolism, 2022-07, Vol.35 (7), p.962-967

2022

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IMAGe association and congenital adrenal hypoplasia: No disease-causing mutations found in the ACD gene

Molecular genetics and metabolism, 2006-05, Vol.88 (1), p.66-70

2006

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Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita

Orphanet journal of rare diseases, 2023-05, Vol.18 (1), p.126-126, Article 126

2023

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Phenotypic continuum between POLE‐related recessive disorders: A case report and literature review

American journal of medical genetics. Part A, 2022-10, Vol.188 (10), p.3121-3125

2022

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Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers

Molecular biology reports, 2019-08, Vol.46 (4), p.4599-4604

2019

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Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report

BMC medical genetics, 2019-06, Vol.20 (1), p.98-98, Article 98

2019

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Case Report: A Novel Truncating Variant of NR0B1 Presented With X-Linked Late-Onset Adrenal Hypoplasia Congenita With Hypogonadotropic Hypogonadism

Frontiers in endocrinology (Lausanne), 2022-06, Vol.13

2022

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MIRAGE Syndrome: Phenotypic Rescue by Somatic Mutation and Selection

Trends in molecular medicine, 2019-11, Vol.25 (11), p.937-940

Veitia, Reiner A.

2019

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Gonadotropin- and Adrenocorticotropic Hormone-Independent Precocious Puberty of Gonadal Origin in a Patient with Adrenal Hypoplasia Congenita Due to DAX1 Gene Mutation – A Case Report and Review of the Literature: Implications for the Pathomechanism

Hormone research in paediatrics, 2019-09, Vol.91 (5), p.336-345

2019

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A novel stop-loss DAX1 variant affecting its protein-interaction with SF1 precedes the adrenal hypoplasia congenital with rare spontaneous precocious puberty and elevated hypothalamic-pituitary-gonadal/adrenal axis responses

European journal of medical genetics, 2021-05, Vol.64 (5), p.104192-104192, Article 104192

2021

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Kongenitale Nebennierenhypoplasie – seltene Ursache eines plötzlichen postnatalen Herz-Kreislauf-Stillstands

Rechtsmedizin (Berlin, Germany), 2018-12, Vol.28 (6), p.529-532

2018

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X‐linked congenital adrenal hypoplasia: Report of long clinical follow‐up and description of a new complex variant in the NR0B1 gene

Delayed-onset adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by a novel mutation in DAX1

Report: central diabetes insipidus and schwannoma in a male with X-linked congenital adrenal hypoplasia

Adrenal cortex development and related disorders leading to adrenal insufficiency

Response to Letter to the Editor From Janot et al: “Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia”

Letter to the Editor From Janot et al: « Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia

Nueva Variante Patogénica en el Gen NR0B1 Asociada a Hipoplasia Adrenal Congénita

DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease

Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia

Novel non-stop variant of the NR0B1 gene in two siblings with adrenal hypoplasia congenita

Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center

IMAGe syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal development

Patient with adrenal insufficiency due to a de novo mutation in the NR0B1 gene

Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant

Pleomorphism of the HPG axis with NR0B1 gene mutation — a case report of longitudinal follow-up of a proband with central precocious puberty

IMAGe association and congenital adrenal hypoplasia: No disease-causing mutations found in the ACD gene

Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita

Phenotypic continuum between POLE‐related recessive disorders: A case report and literature review

Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers

Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report

Case Report: A Novel Truncating Variant of NR0B1 Presented With X-Linked Late-Onset Adrenal Hypoplasia Congenita With Hypogonadotropic Hypogonadism

MIRAGE Syndrome: Phenotypic Rescue by Somatic Mutation and Selection

Gonadotropin- and Adrenocorticotropic Hormone-Independent Precocious Puberty of Gonadal Origin in a Patient with Adrenal Hypoplasia Congenita Due to DAX1 Gene Mutation – A Case Report and Review of the Literature: Implications for the Pathomechanism

A novel stop-loss DAX1 variant affecting its protein-interaction with SF1 precedes the adrenal hypoplasia congenital with rare spontaneous precocious puberty and elevated hypothalamic-pituitary-gonadal/adrenal axis responses

Kongenitale Nebennierenhypoplasie – seltene Ursache eines plötzlichen postnatalen Herz-Kreislauf-Stillstands

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